KRT1 gene homepage

General information
Gene symbol KRT1
Gene name keratin 1
Chromosome 12
Chromosomal band q13.13
Imprinted Unknown
Genomic reference NG_008364.1
Transcript reference NM_006121.3
Exon/intron information NM_006121.3 exon/intron table
Associated with diseases EHK, EPPK, IHCM, NEPPK, PPKS-3, ichthyosis, cyclic, with epidermolytic hyperkeratosis
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Michel van Geel
Total number of public variants reported 109
Unique public DNA variants reported 80
Individuals with public variants 149
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated December 14, 2018
Version KRT1:181214

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006121.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
HGNC 6412
Entrez Gene 3848
PubMed articles KRT1
OMIM - Gene 139350
OMIM - Diseases EHK (BIE)
EPPK (keratoderma, palmoplantar, epidermolytic (EPPK))
IHCM (ichthyosis hystrix, Curth-Macklin type (IHCM))
NEPPK (keratoderma, palmoplantar, nonepidermolytic (NEPPK))
PPKS-3 (keratosis palmoplantaris striata, type 3 (PPKS-3))
ichthyosis, cyclic, with epidermolytic hyperkeratosis
GeneCards KRT1
GeneTests KRT1

Active transcripts




NCBI ID     

NCBI Protein ID     

00010758 12 keratin 1 NM_006121.3 NP_006112.3 109

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